A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695877



Internal ID15085843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:10342547..10392180hg38UCSC Ensembl
Innerchr17:10245864..10295497hg19UCSC Ensembl
Innerchr17:10186589..10236222hg18UCSC Ensembl
Innerchr17:10186589..10236222hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3849634
hg1949634
hg1849634
hg1749634
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520771
Supporting Variants
Samples
Known GenesMYH13, MYH8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695877
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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